Incidental Mutation 'R6613:Lhfpl2'
ID 523795
Institutional Source Beutler Lab
Gene Symbol Lhfpl2
Ensembl Gene ENSMUSG00000045312
Gene Name lipoma HMGIC fusion partner-like 2
Synonyms vgim
MMRRC Submission 044736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # R6613 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 94194304-94331917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94311003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 91 (F91Y)
Ref Sequence ENSEMBL: ENSMUSP00000152241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054274] [ENSMUST00000118195] [ENSMUST00000120051] [ENSMUST00000121618] [ENSMUST00000156071] [ENSMUST00000221096] [ENSMUST00000223423]
AlphaFold Q8BGA2
Predicted Effect probably benign
Transcript: ENSMUST00000054274
AA Change: F91Y

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062239
Gene: ENSMUSG00000045312
AA Change: F91Y

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118195
AA Change: F91Y

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112655
Gene: ENSMUSG00000045312
AA Change: F91Y

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.4e-59 PFAM
Pfam:Claudin_2 16 197 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120051
Predicted Effect probably benign
Transcript: ENSMUST00000121618
AA Change: F91Y

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113468
Gene: ENSMUSG00000045312
AA Change: F91Y

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 198 2.4e-59 PFAM
Pfam:Claudin_2 16 197 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131595
Predicted Effect probably damaging
Transcript: ENSMUST00000156071
AA Change: F91Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117113
Gene: ENSMUSG00000045312
AA Change: F91Y

DomainStartEndE-ValueType
Pfam:L_HGMIC_fpl 9 139 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221096
Predicted Effect probably damaging
Transcript: ENSMUST00000223423
AA Change: F91Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females homozygous for a spontaneous point mutation have a completely closed vagina, soft swelling of the perineum and buildup of viscous fluid in the uteri. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 G A 6: 125,783,619 (GRCm39) probably null Het
Arfgef1 A T 1: 10,264,621 (GRCm39) I475N possibly damaging Het
Atg16l2 C T 7: 100,939,788 (GRCm39) probably null Het
Atp2c2 T G 8: 120,482,760 (GRCm39) L874R probably damaging Het
C2cd3 T A 7: 100,044,448 (GRCm39) S343R possibly damaging Het
C4b A T 17: 34,952,539 (GRCm39) S1167T probably damaging Het
Cacna1i G A 15: 80,205,460 (GRCm39) G139S probably damaging Het
Chil6 A T 3: 106,297,191 (GRCm39) F317I probably benign Het
Cngb1 A T 8: 95,992,638 (GRCm39) V199E possibly damaging Het
Dcn A T 10: 97,330,902 (GRCm39) T79S probably benign Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Dnajc13 A T 9: 104,091,076 (GRCm39) D668E probably benign Het
Dnajc28 C A 16: 91,413,246 (GRCm39) E357* probably null Het
Dock7 A G 4: 98,866,197 (GRCm39) Y1198H probably damaging Het
Flot1 A G 17: 36,136,703 (GRCm39) D167G probably damaging Het
Gpn1 T C 5: 31,654,696 (GRCm39) probably null Het
Hyou1 A T 9: 44,293,795 (GRCm39) I242F probably damaging Het
Igfbpl1 T C 4: 45,813,447 (GRCm39) N256S probably benign Het
Kif20b C T 19: 34,914,384 (GRCm39) Q390* probably null Het
Magi1 G A 6: 93,722,654 (GRCm39) T408I probably damaging Het
Mttp T C 3: 137,814,839 (GRCm39) N479D probably damaging Het
Myom3 T C 4: 135,539,770 (GRCm39) V1339A possibly damaging Het
Nin T C 12: 70,077,728 (GRCm39) K1733E probably damaging Het
Or5k1 C A 16: 58,617,894 (GRCm39) C105F probably damaging Het
Pdzrn4 T C 15: 92,575,455 (GRCm39) I287T probably damaging Het
Ptprt A G 2: 161,372,367 (GRCm39) V1435A probably damaging Het
Rpap3 T C 15: 97,579,722 (GRCm39) probably null Het
Scin A G 12: 40,129,714 (GRCm39) Y360H probably benign Het
Sfxn5 A G 6: 85,246,890 (GRCm39) probably null Het
Sgo1 A G 17: 53,986,085 (GRCm39) S369P probably damaging Het
Skil T A 3: 31,152,029 (GRCm39) C184S probably null Het
Srcin1 A G 11: 97,424,653 (GRCm39) M607T possibly damaging Het
Ssc5d C T 7: 4,936,292 (GRCm39) P513S possibly damaging Het
Trip10 A G 17: 57,562,197 (GRCm39) probably null Het
Vmn2r114 T A 17: 23,529,220 (GRCm39) Q294L possibly damaging Het
Zc3h12c A G 9: 52,027,412 (GRCm39) V650A possibly damaging Het
Other mutations in Lhfpl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Lhfpl2 APN 13 94,328,419 (GRCm39) missense probably benign 0.00
IGL02576:Lhfpl2 APN 13 94,310,734 (GRCm39) start codon destroyed probably null 1.00
R0278:Lhfpl2 UTSW 13 94,310,943 (GRCm39) missense probably benign 0.00
R0482:Lhfpl2 UTSW 13 94,311,118 (GRCm39) missense probably damaging 1.00
R1134:Lhfpl2 UTSW 13 94,310,760 (GRCm39) missense probably damaging 1.00
R2130:Lhfpl2 UTSW 13 94,328,557 (GRCm39) missense possibly damaging 0.91
R2302:Lhfpl2 UTSW 13 94,311,054 (GRCm39) missense probably benign 0.00
R2995:Lhfpl2 UTSW 13 94,310,966 (GRCm39) missense probably benign 0.04
R6922:Lhfpl2 UTSW 13 94,311,029 (GRCm39) missense probably damaging 1.00
R9347:Lhfpl2 UTSW 13 94,328,539 (GRCm39) missense probably damaging 0.99
R9480:Lhfpl2 UTSW 13 94,310,733 (GRCm39) start codon destroyed probably null 1.00
Predicted Primers PCR Primer
(F):5'- TGATCGGGAAAGCCAAGACC -3'
(R):5'- ACCAGAGGAACGGGATCTTG -3'

Sequencing Primer
(F):5'- GGAAAGCCAAGACCCGCAG -3'
(R):5'- TCTTCAACAGATGCAAGCAGTAAGTG -3'
Posted On 2018-06-22